Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Bowing of the long bones
|
phenotype |
|
Congenital Abnormality
|
63
|
5
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Cole Carpenter syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.610 |
strong |
1.000 |
2 |
|
2015 |
2018 |
COLE-CARPENTER SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.600 |
moderate |
1.000 |
2 |
3
|
2015 |
2017 |
Communicating Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Coronal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Crumpled long bones
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dentinogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Ehlers-Danlos syndrome 6B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.100 |
None |
|
0 |
1
|
|
|
Exophthalmos
|
disease |
Eye Diseases
|
Disease or Syndrome
|
225
|
12
|
0.100 |
None |
|
0 |
|
|
|
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
3097
|
353
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|